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. 2012;122(1-2):1-6.
doi: 10.1159/000349989. Epub 2013 Feb 23.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

Graciana Jaureguiberry  1 , Muriel De la Dure-Molla, David Parry, Mickael Quentric, Nina Himmerkus, Toshiyasu Koike, James Poulter, Enriko Klootwijk, Steven L Robinette, Alexander J Howie, Vaksha Patel, Marie-Lucile Figueres, Horia C Stanescu, Naomi Issler, Jeremy K Nicholson, Detlef Bockenhauer, Christopher Laing, Stephen B Walsh, David A McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan J Medlar, Isabelle Bailleul-Forestier, Alain Verloes, Cedric Le Caignec, Gwenaelle Roussey, Julien Guiol, Bertrand Isidor, Clare Logan, Roger Shore, Colin Johnson, Christopher Inglehearn, Suhaila Al-Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo M Yamaguti, Heloisa P Safatle, Ana Carolina Acevedo, Hercílio Martelli-Júnior, Pedro E dos Santos Netos, Ricardo D Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B Langman, Steven J Scheinman, Didem Ozdemir-Ozenen, Thomas C Hart, P Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A Gahl, Miikka Vikkula, Agnès Bloch-Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J Unwin, Alan Mighell, Ariane Berdal, Robert Kleta
Affiliations

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

Graciana Jaureguiberry et al. Nephron Physiol. 2012.

Abstract

Background/aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.

Methods: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing.

Results: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified.

Conclusions: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.

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Figures

Fig. 1.
Fig. 1.
A Pedigrees used for multipoint parametric linkage analysis. Black symbols indicate affected, white unaffected, squares males and circles females. B LOD score analysis for chromosome 17. Note the single significant peak at 17q24.
See this image and copyright information in PMC

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